Results 31 to 40 of about 2,881 (205)
Journal of Neurology, Neurosurgery & Psychiatry, 1979 Centronuclear myopathy occurring sporadically in two African female children is reported, with details of clinical history and histological, histochemical, and ultrastructural findings, and a review of 58 previously reported cases. In spite of distinctive histological features, the clinical presentation of this condition is variable, there are ...
P L, Bill, G, Cole, N S, Proctor
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Egyptian Journal of Medical Human Genetics, 2021 Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik +8 more
doaj +1 more source
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm [PDF]
, 2008 Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including malignant hyperthermia (MH; MIM #145600 ...
Jungbluth, Heinz +3 more
core +1 more source
Myotonia in centronuclear myopathy [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1978 Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.
A, Gil-Peralta +3 more
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Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing
Molecular Therapy: Nucleic Acids, 2016 Dynamin 2 (DNM2) is a large GTPase, ubiquitously expressed, involved in membrane trafficking and regulation of actin and microtubule cytoskeletons.
Delphine Trochet +4 more
doaj +1 more source
New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]
, 1984 The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter +3 more
core +1 more source
Pathogenic Mechanisms in Centronuclear Myopathies [PDF]
Frontiers in Aging Neuroscience, 2014 Centronuclear myopathies (CNMs) are a genetically heterogeneous group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and abundant central nuclei as the most prominent histopathological feature. The most common forms of congenital myopathies with central nuclei have been attributed to X-linked recessive ...
Jungbluth, Heinz, Gautel, Mathias
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OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]
Eur J Clin InvestThis systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
du Preez MJ +4 more
europepmc +2 more sources
Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]
, 2016 Peer ...
Hackman, Peter +4 more
core +2 more sources
Arquivos de Neuro-Psiquiatria, 1998 Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset.
EDMAR ZANOTELI +4 more
doaj +1 more source